LETTER OF MEDICAL NECESSITYFORNON-LESIONAL FOCAL EPILEPSYGENETIC TESTING (EpiFirst-Focal)

Date: Date of service/claim

To:Utilization Review Department

Insurance Company Name

Address, City, State, Zip

Re:Patient Name, DOB, ID #

ICD-10 Codes: (list codes)

Dear Medical Director:

I am writing this letter on behalf of my patient and your subscriber, [First Last Name],to request coverage of medically-indicated genetic testing for non-lesional focal epilepsy (EpiFirst-Focal)offered by Ambry Genetics Corporation.

Non-lesional focal epilepsy syndromes are characterized by focal seizures without epileptogenic lesions identified on magnetic resonance imaging (MRI). Both surgical and pharmacologic evaluation and treatment can be challenging in these patients. Approximately half of non-lesional focal epilepsies are drug-resistant and may be associated with poor surgical outcomes.Many non-lesional focal epilepsy syndromes are now known to be caused by mutations in genes involved in the expression or function of neuronal ion channels.1These include autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), autosomal dominant partial epilepsy with auditory features (ADPEAF), and familial partial epilepsy with variable foci (FPEVF). Genetic testing can assist with establishing the correct diagnosis and informing management.

For this patient, I have determined that this genetic test is medically necessary based on[his/her] clinical symptoms, EEG findings, and/or clinical history. My patient is suspected to have a genetic form of non-lesional focal epilepsy. [His/Her] clinical history is suggestive ofnon-lesional focal epilepsy, outlined below as applicable(Alternative: My patient presented to clinic with the following history consistent with non-lesional focal epilepsy):

This genetic test (EpiFirst-Focal) analyzes 11 genes associated with non-lesional focal epilepsy:CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, GRIN2A KCNT1, LGI1, PRRT2, SCN1A, and SCN1B.This multi-gene test is an efficient and cost-effective way to analyze numerous genes implicated in non-lesional focal epilepsy, and has significant potential to identify a causative gene mutation in my patient. As my patient hasunexplained non-lesional focal epilepsy, there is a reasonable probability of detecting a mutation with this test.

This genetic testing will help clarify my patient’s diagnosis and more importantly, guide my recommendation(s) for further medical care. This genetic test will impact medical management, screening, and prevention of potential complications of this disease.For example, carbamazepine is the most frequently utilized anti-seizure medication for ADNFLE, providing remission in about 70% of individuals. However, patients found to have the CHRNA4 mutation p.Ser284Leu are more responsive to zonisamide than carbamazepine.2,3,4

Specifically for this patient, the results of the genetic test are necessary to consider in the following areas [check all that apply]:

Genetic testing will lead to changes in my medical management strategies; AND/OR

Genetic testing will lead to changes in diagnostic procedures such that more potentially invasive alternative procedures could be avoided, reducing unnecessary tests and cost; AND/OR

Genetic testing will lead to informed decisions for other family members with similar conditions, or that may be at risk for similar conditions

EpiFirst-Focalincludes full gene sequencing and deletion/duplication analysis of 11 genes (listed earlier). Due to the medical risks associated with these mutations and the available interventions, this genetic test is medically warranted. As such, I am ordering this test as medically necessary and affirm that my patient(Alternative: authorized representative, if a minor) has provided informed consent for genetic testing.

A positive test result would confirm a genetic diagnosis and would ensure my patient is being managed appropriately. I am specifying Ambry Genetics Corporation because this laboratory has highly-sensitive and cost-effective testing for unexplained non-lesional focal epilepsy, along with a large database of tested patients to ensure highly validated, accurate, and informative test interpretation.

Please review this information and provide support for this request for coverage of diagnostic genetic testing for my patient.Coordinating and completing complex testing of this nature can take up to several months; we are requesting that the authorization be valid for at least6 months.

Thank you for your time and further consideration. If you have any questions, please do not hesitate to contact me at the numbers indicated below.

Sincerely,

Ordering Clinician Name (Signature Provided on Test Requisition Form)

(MD/DO, Clinical Nurse Specialist, Nurse-Midwives, Nurse Practitioner, Physician Assistant, Genetic Counselor*)

*Authorized clinician requirements vary by state

[Clinician Address]

[Clinician Phone Number]

Test Details

CPT codes: 81404, 81405x2, 81407, 81479x5

Laboratory: Ambry Genetics Corporation (TIN 33-0892453 / NPI 1861568784), a CAP-accredited and CLIA-certified laboratory located at 7 Argonaut, Aliso Viejo, CA 92656

References

  1. Thomas RH andBerkovic SF. The hidden genetics of epilepsy – a clinically important new paradigm. Nat Rev Neurol. 2014 May;10(5):283-92.
  2. Provini F, et al. Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain. 1999;122:1017–1031.
  3. Ito M, et al. Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. Epilepsia. 2000;41:52–58.
  4. Combi R, et al. Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. J Neurol. 2004;251:923–934.